Congenital cardiovascular malformations represent the most common type of birth defect and encompass a spectrum of anomalies that range from mild to severe. The etiology of congenital heart disease (CHD) is becoming increasingly defined based on prior epidemiologic studies that supported the importance of genetic contributors and technological advances in human genome analysis. These have led to the discovery of a growing number of disease-contributing genetic abnormalities in individuals affected by CHD. The ever-growing population of adult CHD survivors, which are the result of reductions in mortality from CHD during childhood, and this newfound genetic knowledge have led to important questions regarding recurrence risks, the mechanisms by which these defects occur, the potential for novel approaches for prevention, and the prediction of long-term cardiovascular morbidity in adult CHD survivors. Here, we will review the current status of genetic models that accurately model human CHD as they provide an important tool to answer these questions and test novel therapeutic strategies.

中文翻译：

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先天性心脏病的体内和体外遗传模型

先天性心血管畸形是最常见的出生缺陷类型，包括一系列从轻微到严重的异常。先天性心脏病 (CHD) 的病因越来越多地根据先前的流行病学研究来定义，这些研究支持遗传贡献者的重要性和人类基因组分析的技术进步。这些导致在受冠心病影响的个体中发现了越来越多的导致疾病的遗传异常。成年冠心病幸存者人数不断增加，这是儿童时期冠心病死亡率下降的结果，这一新发现的遗传知识引发了关于复发风险、这些缺陷发生的机制、新方法的潜力等重要问题为了预防，以及成人冠心病幸存者长期心血管疾病发病率的预测。在这里，我们将回顾准确模拟人类冠心病的遗传模型的现状，因为它们提供了回答这些问题和测试新治疗策略的重要工具。